H3H (p.His3His) variant of HBB (Hemoglobin subunit beta)
H3H (p.His3His) in HBB (Hemoglobin subunit beta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
H3H (p.His3His) variant details
- p.His3His
- rs713040
- gnomAD 11-5227013-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0834
- CADD 0.58
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Literature evidence available